ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2263595636
Gene:
Linked Data
dbSNP Id:
rs1597855046
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49486733C>T , CM000679.2:g.49486733C>T
GRCh38
NC_000017.10:g.47564095C>T , CM000679.1:g.47564095C>T
GRCh37
NC_000017.9:g.44919094C>T
NCBI36
Search 100 bp 5'
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